Variant (rsID / SNP)
rs1800559
rs1800559 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1S. Location: chromosome 1, position 201,029,943. Clinical significance in the table: drug response.
Reference-table entries
CACNA1SDrug response
- Clinical significance (as recorded)
- drug response
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:201029943
- Cytoband
- 1q32.1
- HGVS
- NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His)
- Allele change
- Missense_R1086H
Associated conditions / phenotypes
Malignant hyperthermia, susceptibility to, 5|sevoflurane response - Toxicity|succinylcholine response - Toxicity|halothane response - Toxicity|methoxyflurane response - Toxicity|Malignant hyperthermia, susceptibility to, 5|Hypokalemic periodic paralysis, type 1|enflurane response - Toxicity|isoflurane response - Toxicity
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.